ClinVar Miner

List of variants studied for Noonan syndrome-like disorder with loose anagen hair 1

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Total variants: 91
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HGVS dbSNP gnomAD frequency
NM_007373.4(SHOC2):c.1161+42T>C rs1980869 0.82744
NM_007373.4(SHOC2):c.*1503A>G rs1327552 0.06997
NM_007373.4(SHOC2):c.*1487del rs143768227 0.06116
NM_007373.4(SHOC2):c.457C>T (p.Leu153=) rs34081996 0.01281
NM_007373.4(SHOC2):c.*1487G>T rs7074770 0.01049
NM_007373.4(SHOC2):c.*773G>A rs114628508 0.00719
NM_007373.4(SHOC2):c.1423-7C>T rs180671383 0.00563
NM_007373.4(SHOC2):c.-244G>T rs192673935 0.00499
NM_007373.4(SHOC2):c.*697C>T rs189140753 0.00453
NM_007373.4(SHOC2):c.1594A>G (p.Ser532Gly) rs145463534 0.00423
NM_007373.4(SHOC2):c.-159T>C rs72819758 0.00305
NM_007373.4(SHOC2):c.*164T>A rs191293913 0.00283
NM_007373.4(SHOC2):c.*1775T>C rs535776105 0.00157
NM_007373.4(SHOC2):c.*1483G>A rs180979375 0.00128
NM_007373.4(SHOC2):c.*1486dup rs549502834 0.00116
NM_007373.4(SHOC2):c.*3T>C rs143187497 0.00097
NM_007373.4(SHOC2):c.*656C>G rs557334390 0.00090
NM_007373.4(SHOC2):c.*404A>G rs539394184 0.00086
NM_007373.4(SHOC2):c.-179T>A rs143180451 0.00080
NM_007373.4(SHOC2):c.*1062dup rs530047047 0.00045
NM_007373.4(SHOC2):c.*685C>T rs749942762 0.00038
NM_007373.4(SHOC2):c.*506_*509del rs371679867 0.00037
NM_007373.4(SHOC2):c.704-16G>T rs185614302 0.00033
NM_007373.4(SHOC2):c.*1323C>T rs371721188 0.00021
NM_007373.4(SHOC2):c.841+12G>A rs201258692 0.00019
NM_007373.4(SHOC2):c.*1245T>C rs754913685 0.00014
NM_007373.4(SHOC2):c.*16C>A rs753327392 0.00013
NM_007373.4(SHOC2):c.-114C>G rs1057217316 0.00013
NM_007373.4(SHOC2):c.*979C>T rs994617323 0.00012
NM_007373.4(SHOC2):c.*1106A>C rs118172559 0.00010
NM_007373.4(SHOC2):c.355A>G (p.Ile119Val) rs147068827 0.00009
NM_007373.4(SHOC2):c.1161+9A>G rs201795589 0.00008
NM_007373.4(SHOC2):c.74A>G (p.Glu25Gly) rs730881019 0.00008
NM_007373.4(SHOC2):c.1239G>T (p.Gln413His) rs200215822 0.00006
NM_007373.4(SHOC2):c.610A>G (p.Ile204Val) rs200015085 0.00006
NM_007373.4(SHOC2):c.*20C>T rs371005619 0.00005
NM_007373.4(SHOC2):c.*1324G>A rs559572636 0.00004
NM_007373.4(SHOC2):c.*614T>G rs886046732 0.00004
NM_007373.4(SHOC2):c.10A>C (p.Ser4Arg) rs397517231 0.00004
NM_007373.4(SHOC2):c.170C>T (p.Ser57Phe) rs536611911 0.00003
NM_007373.4(SHOC2):c.*914G>A rs189223963 0.00002
NM_007373.4(SHOC2):c.38A>C (p.Glu13Ala) rs730881018 0.00002
NM_007373.4(SHOC2):c.*1269A>G rs772654155 0.00001
NM_007373.4(SHOC2):c.*825G>A rs921664394 0.00001
NM_007373.4(SHOC2):c.*990T>G rs1274288913 0.00001
NM_007373.4(SHOC2):c.-235+15A>G rs1309762163 0.00001
NM_007373.4(SHOC2):c.-254C>T rs886046728 0.00001
NM_007373.4(SHOC2):c.-264A>T rs1367943420 0.00001
NM_007373.4(SHOC2):c.1215A>G (p.Val405=) rs749123957 0.00001
NM_007373.4(SHOC2):c.1439A>C (p.Asn480Thr) rs995403413 0.00001
NM_007373.4(SHOC2):c.1660A>G (p.Ser554Gly) rs771053632 0.00001
NM_007373.4(SHOC2):c.1744G>A (p.Val582Ile) rs1564732203 0.00001
NM_007373.4(SHOC2):c.233C>T (p.Ala78Val) rs201197595 0.00001
NM_007373.4(SHOC2):c.303T>C (p.Asn101=) rs750568201 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_007373.4(SHOC2):c.619G>A (p.Val207Met) rs998435032 0.00001
NM_007373.4(SHOC2):c.701T>C (p.Ile234Thr) rs751292868 0.00001
NM_007373.4(SHOC2):c.733G>A (p.Val245Ile) rs761636280 0.00001
NM_007373.4(SHOC2):c.743A>G (p.Asn248Ser) rs374067666 0.00001
NM_007373.3(SHOC2):c.-346T>G rs1203298501
NM_007373.4(SHOC2):c.*1218C>T rs886046735
NM_007373.4(SHOC2):c.*1381G>C rs997392575
NM_007373.4(SHOC2):c.*1508G>T rs202206864
NM_007373.4(SHOC2):c.*1575A>G rs886046736
NM_007373.4(SHOC2):c.*1775del rs527775221
NM_007373.4(SHOC2):c.*518T>C rs886046731
NM_007373.4(SHOC2):c.*625del rs886046733
NM_007373.4(SHOC2):c.*958C>A rs372493479
NM_007373.4(SHOC2):c.-259G>A rs138612584
NM_007373.4(SHOC2):c.1138G>A (p.Val380Ile)
NM_007373.4(SHOC2):c.1284+15G>A rs770745229
NM_007373.4(SHOC2):c.1422+9_1422+11del rs750754038
NM_007373.4(SHOC2):c.145G>A (p.Asp49Asn)
NM_007373.4(SHOC2):c.1541-7del rs371544139
NM_007373.4(SHOC2):c.1544C>T (p.Thr515Ile)
NM_007373.4(SHOC2):c.1555C>G (p.Leu519Val) rs2134182984
NM_007373.4(SHOC2):c.157G>A (p.Gly53Arg) rs2134121169
NM_007373.4(SHOC2):c.32C>A (p.Ser11Tyr) rs1381863749
NM_007373.4(SHOC2):c.506_507delinsC (p.Lys169fs) rs1847643137
NM_007373.4(SHOC2):c.514C>T (p.Arg172Trp) rs1057517872
NM_007373.4(SHOC2):c.517A>G (p.Met173Val) rs1057518206
NM_007373.4(SHOC2):c.519G>A (p.Met173Ile) rs730881020
NM_007373.4(SHOC2):c.52G>C (p.Val18Leu)
NM_007373.4(SHOC2):c.56C>G (p.Pro19Arg) rs1847632082
NM_007373.4(SHOC2):c.598C>T (p.Arg200Cys)
NM_007373.4(SHOC2):c.703+15ATT[3] rs370351651
NM_007373.4(SHOC2):c.774A>G (p.Gly258=) rs753237615
NM_007373.4(SHOC2):c.806A>G (p.Gln269Arg) rs864309599
NM_007373.4(SHOC2):c.807_808delinsTT (p.Gln269_His270delinsHisTyr) rs1848064627
NM_007373.4(SHOC2):c.836C>T (p.Thr279Ile) rs1848065186
NM_007373.4(SHOC2):c.973-5del rs730881016

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