ClinVar Miner

List of variants reported as uncertain significance for Ritscher-Schinzel syndrome 1 by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 176
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HGVS dbSNP gnomAD frequency
NM_014846.4(WASHC5):c.2422A>G (p.Ile808Val) rs144507279 0.00024
NM_014846.4(WASHC5):c.1178G>A (p.Arg393His) rs151298198 0.00016
NM_014846.4(WASHC5):c.1217A>G (p.Asn406Ser) rs200456170 0.00012
NM_014846.4(WASHC5):c.122G>A (p.Arg41Lys) rs200850741 0.00009
NM_014846.4(WASHC5):c.3296T>C (p.Ile1099Thr) rs373599521 0.00007
NM_014846.4(WASHC5):c.1550A>G (p.Asn517Ser) rs368546546 0.00006
NM_014846.4(WASHC5):c.2850+4T>C rs770743674 0.00006
NM_014846.4(WASHC5):c.2972T>C (p.Ile991Thr) rs142883794 0.00006
NM_014846.4(WASHC5):c.2575C>T (p.Arg859Cys) rs202015963 0.00005
NM_014846.4(WASHC5):c.1576G>A (p.Asp526Asn) rs766834356 0.00004
NM_014846.4(WASHC5):c.2489G>A (p.Arg830Gln) rs749703625 0.00004
NM_014846.4(WASHC5):c.2533A>G (p.Thr845Ala) rs553869211 0.00004
NM_014846.4(WASHC5):c.2716C>G (p.Gln906Glu) rs757250722 0.00004
NM_014846.4(WASHC5):c.2752C>T (p.Pro918Ser) rs367744328 0.00004
NM_014846.4(WASHC5):c.3103C>T (p.Arg1035Cys) rs758843087 0.00004
NM_014846.4(WASHC5):c.439G>A (p.Gly147Arg) rs979115163 0.00004
NM_014846.4(WASHC5):c.875T>C (p.Ile292Thr) rs1218811554 0.00004
NM_014846.4(WASHC5):c.1094G>C (p.Cys365Ser) rs756457820 0.00003
NM_014846.4(WASHC5):c.1642A>G (p.Met548Val) rs138176168 0.00003
NM_014846.4(WASHC5):c.2426C>G (p.Pro809Arg) rs747787888 0.00003
NM_014846.4(WASHC5):c.3269G>A (p.Arg1090Gln) rs762522662 0.00003
NM_014846.4(WASHC5):c.1210C>T (p.Arg404Trp) rs758878691 0.00002
NM_014846.4(WASHC5):c.1589T>C (p.Phe530Ser) rs184557946 0.00002
NM_014846.4(WASHC5):c.161T>C (p.Ile54Thr) rs199936194 0.00002
NM_014846.4(WASHC5):c.3329G>A (p.Cys1110Tyr) rs761053851 0.00002
NM_014846.4(WASHC5):c.3356C>G (p.Pro1119Arg) rs202184316 0.00002
NM_014846.4(WASHC5):c.625G>A (p.Glu209Lys) rs565980279 0.00002
NM_014846.4(WASHC5):c.1211G>A (p.Arg404Gln) rs753133551 0.00001
NM_014846.4(WASHC5):c.1235A>G (p.Gln412Arg) rs1328488239 0.00001
NM_014846.4(WASHC5):c.1297T>C (p.Ser433Pro) rs766713240 0.00001
NM_014846.4(WASHC5):c.1408+4A>C rs780340651 0.00001
NM_014846.4(WASHC5):c.143A>G (p.Gln48Arg) rs1357562835 0.00001
NM_014846.4(WASHC5):c.166T>C (p.Phe56Leu) rs751591590 0.00001
NM_014846.4(WASHC5):c.2032C>T (p.His678Tyr) rs1403229183 0.00001
NM_014846.4(WASHC5):c.2627T>C (p.Leu876Ser) rs1289915533 0.00001
NM_014846.4(WASHC5):c.2769C>T (p.Val923=) rs545318648 0.00001
NM_014846.4(WASHC5):c.2846T>C (p.Met949Thr) rs1182525812 0.00001
NM_014846.4(WASHC5):c.3104G>A (p.Arg1035His) rs761500521 0.00001
NM_014846.4(WASHC5):c.3118C>G (p.Pro1040Ala) rs775752911 0.00001
NM_014846.4(WASHC5):c.3121A>G (p.Ile1041Val) rs1184928685 0.00001
NM_014846.4(WASHC5):c.3145G>A (p.Ala1049Thr) rs375664674 0.00001
NM_014846.4(WASHC5):c.735G>C (p.Glu245Asp) rs765982075 0.00001
NM_014846.4(WASHC5):c.863G>C (p.Trp288Ser) rs1019440298 0.00001
NM_014846.4(WASHC5):c.864+5G>C rs772529893 0.00001
NM_014846.4(WASHC5):c.872G>A (p.Ser291Asn) rs753529606 0.00001
NC_000008.10:g.(?_126036859)_(126379127_?)dup
NC_000008.10:g.(?_126049459)_(126075913_?)del
NC_000008.11:g.(?_125024607)_(125044104_?)del
NM_014846.4(WASHC5):c.1037AAG[1] (p.Glu347del) rs764020658
NM_014846.4(WASHC5):c.1060A>G (p.Met354Val)
NM_014846.4(WASHC5):c.1121G>A (p.Arg374Gln)
NM_014846.4(WASHC5):c.113C>G (p.Ala38Gly)
NM_014846.4(WASHC5):c.1163A>G (p.Asn388Ser)
NM_014846.4(WASHC5):c.1166A>G (p.Asn389Ser)
NM_014846.4(WASHC5):c.1172G>A (p.Arg391His)
NM_014846.4(WASHC5):c.1188G>C (p.Lys396Asn)
NM_014846.4(WASHC5):c.1205A>G (p.Asp402Gly)
NM_014846.4(WASHC5):c.1340C>T (p.Ser447Leu) rs886062654
NM_014846.4(WASHC5):c.136G>A (p.Ala46Thr)
NM_014846.4(WASHC5):c.1378G>T (p.Val460Leu)
NM_014846.4(WASHC5):c.1481C>T (p.Ala494Val)
NM_014846.4(WASHC5):c.1504A>T (p.Ile502Leu)
NM_014846.4(WASHC5):c.1510G>A (p.Ala504Thr)
NM_014846.4(WASHC5):c.1540T>G (p.Leu514Val)
NM_014846.4(WASHC5):c.1543G>C (p.Glu515Gln)
NM_014846.4(WASHC5):c.1557A>G (p.Gln519=) rs1374104992
NM_014846.4(WASHC5):c.1580C>T (p.Thr527Ile)
NM_014846.4(WASHC5):c.1583G>A (p.Arg528Gln)
NM_014846.4(WASHC5):c.1651G>A (p.Val551Ile)
NM_014846.4(WASHC5):c.1688+5T>G
NM_014846.4(WASHC5):c.1705C>G (p.Gln569Glu) rs1816510758
NM_014846.4(WASHC5):c.1747A>G (p.Arg583Gly) rs761801345
NM_014846.4(WASHC5):c.1749A>C (p.Arg583Ser)
NM_014846.4(WASHC5):c.1850G>T (p.Gly617Val)
NM_014846.4(WASHC5):c.186+3A>G
NM_014846.4(WASHC5):c.1875+3A>C
NM_014846.4(WASHC5):c.187G>A (p.Gly63Ser)
NM_014846.4(WASHC5):c.1883A>G (p.Gln628Arg) rs1816420898
NM_014846.4(WASHC5):c.1885A>T (p.Ile629Phe) rs1277499447
NM_014846.4(WASHC5):c.1892C>T (p.Pro631Leu) rs1586359734
NM_014846.4(WASHC5):c.1901T>A (p.Met634Lys) rs768146940
NM_014846.4(WASHC5):c.193G>A (p.Glu65Lys)
NM_014846.4(WASHC5):c.1948A>G (p.Ile650Val) rs1188960621
NM_014846.4(WASHC5):c.1960A>G (p.Thr654Ala)
NM_014846.4(WASHC5):c.1963C>T (p.Arg655Cys)
NM_014846.4(WASHC5):c.1972A>G (p.Lys658Glu)
NM_014846.4(WASHC5):c.1991A>C (p.Tyr664Ser)
NM_014846.4(WASHC5):c.2003G>T (p.Gly668Val) rs763639768
NM_014846.4(WASHC5):c.2014G>A (p.Glu672Lys)
NM_014846.4(WASHC5):c.2016+6G>C
NM_014846.4(WASHC5):c.2042C>A (p.Ser681Tyr)
NM_014846.4(WASHC5):c.2090TCA[1] (p.Ile698del) rs1554593551
NM_014846.4(WASHC5):c.2097+3A>G
NM_014846.4(WASHC5):c.2097+6A>G
NM_014846.4(WASHC5):c.2098-5C>G
NM_014846.4(WASHC5):c.2098G>A (p.Val700Met) rs777613204
NM_014846.4(WASHC5):c.2119G>C (p.Glu707Gln)
NM_014846.4(WASHC5):c.2137G>A (p.Glu713Lys) rs878854987
NM_014846.4(WASHC5):c.2158T>G (p.Phe720Val) rs1586352875
NM_014846.4(WASHC5):c.2199+15_2199+16delinsTG
NM_014846.4(WASHC5):c.2199+6C>T
NM_014846.4(WASHC5):c.2255A>G (p.His752Arg)
NM_014846.4(WASHC5):c.2258G>A (p.Arg753His)
NM_014846.4(WASHC5):c.2273T>C (p.Ile758Thr)
NM_014846.4(WASHC5):c.2410A>G (p.Thr804Ala) rs1419129064
NM_014846.4(WASHC5):c.2429A>T (p.Lys810Met) rs780468544
NM_014846.4(WASHC5):c.2430G>C (p.Lys810Asn) rs140742485
NM_014846.4(WASHC5):c.2468G>A (p.Arg823Gln)
NM_014846.4(WASHC5):c.2491A>T (p.Ile831Phe)
NM_014846.4(WASHC5):c.2504+5G>A
NM_014846.4(WASHC5):c.2506A>G (p.Met836Val) rs2130023977
NM_014846.4(WASHC5):c.2521G>C (p.Asp841His) rs2130023882
NM_014846.4(WASHC5):c.2545A>G (p.Met849Val) rs1355658998
NM_014846.4(WASHC5):c.2566A>G (p.Thr856Ala)
NM_014846.4(WASHC5):c.2572A>G (p.Ser858Gly)
NM_014846.4(WASHC5):c.2635C>A (p.Leu879Ile)
NM_014846.4(WASHC5):c.2647A>G (p.Met883Val)
NM_014846.4(WASHC5):c.2654T>C (p.Val885Ala)
NM_014846.4(WASHC5):c.265A>G (p.Ile89Val)
NM_014846.4(WASHC5):c.2671T>G (p.Phe891Val)
NM_014846.4(WASHC5):c.26A>G (p.Asn9Ser)
NM_014846.4(WASHC5):c.2711C>T (p.Thr904Ile)
NM_014846.4(WASHC5):c.2734C>T (p.Leu912Phe)
NM_014846.4(WASHC5):c.2770+6T>C rs2130019658
NM_014846.4(WASHC5):c.2789A>C (p.Tyr930Ser) rs1815970512
NM_014846.4(WASHC5):c.2794T>A (p.Ser932Thr)
NM_014846.4(WASHC5):c.2833C>G (p.Leu945Val)
NM_014846.4(WASHC5):c.2836G>A (p.Glu946Lys)
NM_014846.4(WASHC5):c.2842A>G (p.Ile948Val)
NM_014846.4(WASHC5):c.2860A>T (p.Met954Leu)
NM_014846.4(WASHC5):c.292G>T (p.Ala98Ser)
NM_014846.4(WASHC5):c.2944A>G (p.Asn982Asp)
NM_014846.4(WASHC5):c.2971A>G (p.Ile991Val) rs1554591077
NM_014846.4(WASHC5):c.2973T>G (p.Ile991Met)
NM_014846.4(WASHC5):c.3047A>G (p.Tyr1016Cys) rs767608029
NM_014846.4(WASHC5):c.3065T>C (p.Ile1022Thr) rs150819213
NM_014846.4(WASHC5):c.3129C>G (p.Asn1043Lys)
NM_014846.4(WASHC5):c.3146C>T (p.Ala1049Val)
NM_014846.4(WASHC5):c.3160C>G (p.Leu1054Val)
NM_014846.4(WASHC5):c.3182-16A>G
NM_014846.4(WASHC5):c.3200C>T (p.Pro1067Leu) rs149383757
NM_014846.4(WASHC5):c.3202A>T (p.Thr1068Ser) rs2129964066
NM_014846.4(WASHC5):c.3205G>A (p.Asp1069Asn)
NM_014846.4(WASHC5):c.3207C>A (p.Asp1069Glu)
NM_014846.4(WASHC5):c.3209C>T (p.Pro1070Leu)
NM_014846.4(WASHC5):c.3214G>A (p.Asp1072Asn)
NM_014846.4(WASHC5):c.3217T>C (p.Trp1073Arg)
NM_014846.4(WASHC5):c.332+4T>C
NM_014846.4(WASHC5):c.3328T>C (p.Cys1110Arg)
NM_014846.4(WASHC5):c.3335+5A>C rs1815562338
NM_014846.4(WASHC5):c.3335G>A (p.Ser1112Asn) rs1324512839
NM_014846.4(WASHC5):c.3400C>T (p.Arg1134Trp)
NM_014846.4(WASHC5):c.3450C>G (p.Phe1150Leu)
NM_014846.4(WASHC5):c.350A>G (p.Asn117Ser)
NM_014846.4(WASHC5):c.413T>G (p.Leu138Arg) rs1563636568
NM_014846.4(WASHC5):c.420T>G (p.Cys140Trp)
NM_014846.4(WASHC5):c.445A>G (p.Met149Val) rs1817270519
NM_014846.4(WASHC5):c.50G>C (p.Arg17Thr)
NM_014846.4(WASHC5):c.518+13T>C
NM_014846.4(WASHC5):c.526C>T (p.Arg176Ter) rs1362286755
NM_014846.4(WASHC5):c.541T>A (p.Ser181Thr) rs1817146560
NM_014846.4(WASHC5):c.572G>A (p.Arg191Gln) rs1586384678
NM_014846.4(WASHC5):c.656A>G (p.Glu219Gly)
NM_014846.4(WASHC5):c.672G>T (p.Met224Ile)
NM_014846.4(WASHC5):c.683G>A (p.Arg228Gln)
NM_014846.4(WASHC5):c.689G>A (p.Arg230Lys) rs1817137048
NM_014846.4(WASHC5):c.733G>C (p.Glu245Gln)
NM_014846.4(WASHC5):c.746C>G (p.Thr249Arg)
NM_014846.4(WASHC5):c.778G>A (p.Val260Met)
NM_014846.4(WASHC5):c.786C>T (p.Leu262=)
NM_014846.4(WASHC5):c.860A>G (p.Asn287Ser) rs1020805660
NM_014846.4(WASHC5):c.864+9T>G
NM_014846.4(WASHC5):c.880A>C (p.Met294Leu) rs755946575
NM_014846.4(WASHC5):c.880A>G (p.Met294Val)
NM_014846.4(WASHC5):c.884G>A (p.Gly295Glu)
NM_014846.4(WASHC5):c.925G>A (p.Ala309Thr)

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