ClinVar Miner

List of variants reported as likely benign for Holoprosencephaly sequence by Illumina Clinical Services Laboratory,Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 179
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HGVS dbSNP
NM_001083602.2(PTCH1):c.*1066A>C rs185406054
NM_001083602.2(PTCH1):c.*1373G>C rs16909865
NM_001083602.2(PTCH1):c.*1535T>C rs112320257
NM_001083602.2(PTCH1):c.*1545T>C rs113253600
NM_001083602.2(PTCH1):c.*1616A>C rs73540181
NM_001083602.2(PTCH1):c.*1702C>T rs115675849
NM_001083602.2(PTCH1):c.*1708C>T rs146131736
NM_001083602.2(PTCH1):c.*1709G>A rs73540175
NM_001083602.2(PTCH1):c.*1866_*1867TG[10] rs59205702
NM_001083602.2(PTCH1):c.*1893_*1894GT[4] rs531572088
NM_001083602.2(PTCH1):c.*1905C>G rs113213198
NM_001083602.2(PTCH1):c.*2070C>G rs142942544
NM_001083602.2(PTCH1):c.*2175G>A rs188061818
NM_001083602.2(PTCH1):c.*231T>C rs28401363
NM_001083602.2(PTCH1):c.*237G>C rs28688501
NM_001083602.2(PTCH1):c.*2988_*2991TTGT[1] rs139748418
NM_001083602.2(PTCH1):c.*3157G>A rs118174136
NM_001083602.2(PTCH1):c.*3232G>T rs357565
NM_001083602.2(PTCH1):c.*3341T>C rs138499623
NM_001083602.2(PTCH1):c.*748_*749insACTT rs147342582
NM_001083602.2(PTCH1):c.*748_*749insATTT rs1554687587
NM_001083602.2(PTCH1):c.*780C>T rs75765727
NM_001083602.2(PTCH1):c.*801C>T rs114243832
NM_001083602.2(PTCH1):c.*851G>C rs73540186
NM_001083602.2(PTCH1):c.120C>T (p.Leu40=) rs1805153
NM_001083602.2(PTCH1):c.1306-8T>C rs2277184
NM_001083602.2(PTCH1):c.1404+15_1404+17del rs528001004
NM_001083602.2(PTCH1):c.1443C>T (p.Ser481=) rs2066830
NM_001083602.2(PTCH1):c.1467T>C (p.Asn489=) rs1805155
NM_001083602.2(PTCH1):c.1488C>T (p.Ala496=) rs2066836
NM_001083602.2(PTCH1):c.1656C>T (p.Cys552=) rs62637628
NM_001083602.2(PTCH1):c.1985C>T (p.Thr662Met) rs115556836
NM_001083602.2(PTCH1):c.2001A>G (p.Ser667=) rs2227970
NM_001083602.2(PTCH1):c.2480G>A (p.Arg827His) rs138154222
NM_001083602.2(PTCH1):c.2715T>C (p.Tyr905=) rs2229062
NM_001083602.2(PTCH1):c.2739C>T (p.Asn913=) rs58629309
NM_001083602.2(PTCH1):c.2943T>G (p.Leu981=) rs2066835
NM_001083602.2(PTCH1):c.3189C>T (p.Gly1063=) rs28446339
NM_001083602.2(PTCH1):c.3369C>T (p.Gly1123=) rs62637630
NM_001083602.2(PTCH1):c.3385A>T (p.Thr1129Ser) rs2236405
NM_001083602.2(PTCH1):c.3408C>T (p.Pro1136=) rs138240178
NM_001083602.2(PTCH1):c.3494T>C (p.Val1165Ala) rs182045135
NM_001083602.2(PTCH1):c.3607-9C>T rs2236404
NM_001083602.2(PTCH1):c.3647C>T (p.Pro1216Leu) rs2227968
NM_001083602.2(PTCH1):c.3709C>T (p.Arg1237Cys) rs56102979
NM_001083602.2(PTCH1):c.3882C>T (p.Ser1294=) rs62637631
NM_001083602.2(PTCH1):c.3930C>T (p.Ser1310=) rs142148876
NM_001083602.2(PTCH1):c.4-1654G>C rs199976372
NM_001083602.2(PTCH1):c.4126C>T (p.Arg1376Trp) rs143464326
NM_001083602.2(PTCH1):c.4127G>A (p.Arg1376Gln) rs56023271
NM_001083602.2(PTCH1):c.537A>G (p.Thr179=) rs1805154
NM_001083602.2(PTCH1):c.876T>C (p.His292=) rs2066832
NM_001083602.2(PTCH1):c.921C>T (p.Tyr307=) rs2066831
NM_003244.3(TGIF1):c.*441del rs397858239
NM_003923.2(FOXH1):c.-333T>C rs147276162
NM_003923.3(FOXH1):c.*311C>T rs74360910
NM_003923.3(FOXH1):c.*472G>T rs576710211
NM_003923.3(FOXH1):c.*55C>T rs192907579
NM_003923.3(FOXH1):c.-54C>T rs187197849
NM_003923.3(FOXH1):c.1077G>A (p.Leu359=) rs7833404
NM_003923.3(FOXH1):c.338G>C (p.Ser113Thr) rs144830740
NM_003923.3(FOXH1):c.361C>A (p.Arg121=) rs371301968
NM_003923.3(FOXH1):c.363G>C (p.Arg121=) rs80356380
NM_003923.3(FOXH1):c.373A>T (p.Thr125Ser) rs112028242
NM_003923.3(FOXH1):c.47C>T (p.Ser16Leu) rs180724802
NM_003923.3(FOXH1):c.771C>A (p.Gly257=) rs115750264
NM_003923.3(FOXH1):c.771C>T (p.Gly257=) rs115750264
NM_003923.3(FOXH1):c.783T>C (p.Pro261=) rs151147114
NM_003923.3(FOXH1):c.984C>G (p.Asp328Glu) rs117754060
NM_005270.4(GLI2):c.*1147_*1148delAT rs199943079
NM_005270.4(GLI2):c.*118C>T rs190824141
NM_005270.4(GLI2):c.*1375A>C rs200730065
NM_005270.4(GLI2):c.*1785A>G rs150539352
NM_005270.4(GLI2):c.*1826T>G rs139459477
NM_005270.4(GLI2):c.*419C>T rs370777016
NM_005270.4(GLI2):c.*42C>T rs185228238
NM_005270.4(GLI2):c.*569T>A rs75544832
NM_005270.4(GLI2):c.-1G>C rs369138377
NM_005270.4(GLI2):c.-7G>A rs112131051
NM_005270.4(GLI2):c.1294G>A (p.Val432Met) rs142296407
NM_005270.4(GLI2):c.148+14C>T rs190309269
NM_005270.4(GLI2):c.1761G>A (p.Thr587=) rs61732852
NM_005270.4(GLI2):c.1802A>G (p.Asn601Ser) rs61732851
NM_005270.4(GLI2):c.1859C>T (p.Thr620Met) rs142775128
NM_005270.4(GLI2):c.1869C>A (p.Gly623=) rs61732850
NM_005270.4(GLI2):c.1944C>T (p.Thr648=) rs13008360
NM_005270.4(GLI2):c.1986G>A (p.Ser662=) rs114259687
NM_005270.4(GLI2):c.2088A>G (p.Ala696=) rs146059306
NM_005270.4(GLI2):c.2916T>A (p.Pro972=) rs747247646
NM_005270.4(GLI2):c.2940C>T (p.Ser980=) rs146811565
NM_005270.4(GLI2):c.3018C>T (p.Gly1006=) rs373880077
NM_005270.4(GLI2):c.3048C>T (p.Asp1016=) rs140479803
NM_005270.4(GLI2):c.3349G>T (p.Val1117Leu) rs147580961
NM_005270.4(GLI2):c.3590G>A (p.Gly1197Asp) rs114823319
NM_005270.4(GLI2):c.3882G>A (p.Thr1294=) rs115052795
NM_005270.4(GLI2):c.3943C>T (p.Pro1315Ser) rs114376238
NM_005270.4(GLI2):c.4054A>G (p.Met1352Val) rs149140724
NM_005270.4(GLI2):c.4207A>G (p.Met1403Val) rs577126364
NM_005270.4(GLI2):c.4332G>A (p.Met1444Ile) rs146467786
NM_005270.4(GLI2):c.4333C>T (p.Leu1445Phe) rs146207623
NM_005270.4(GLI2):c.4558G>A (p.Asp1520Asn) rs114814747
NM_005270.4(GLI2):c.4663T>C (p.Ser1555Pro) rs144372453
NM_005270.4(GLI2):c.720C>T (p.Asp240=) rs142793481
NM_005270.4(GLI2):c.963C>G (p.Pro321=) rs149894186
NM_016952.4(CDON):c.*1016C>T rs545234191
NM_016952.4(CDON):c.*1061T>C rs114455813
NM_016952.4(CDON):c.*12C>T rs200595011
NM_016952.4(CDON):c.*1307T>G rs539481575
NM_016952.4(CDON):c.*1311_*1314GTTT[2] rs567351832
NM_016952.4(CDON):c.*1332T>G rs77555036
NM_016952.4(CDON):c.*140A>G rs3737336
NM_016952.4(CDON):c.*2003C>G rs73019373
NM_016952.4(CDON):c.*2097G>A rs76179044
NM_016952.4(CDON):c.*2291T>C rs192250689
NM_016952.4(CDON):c.*2379T>C rs562083604
NM_016952.4(CDON):c.*2573G>A rs115327518
NM_016952.4(CDON):c.*2717C>T rs12294553
NM_016952.4(CDON):c.*2734G>A rs12294405
NM_016952.4(CDON):c.*2749C>G rs76176354
NM_016952.4(CDON):c.*278T>C rs73628538
NM_016952.4(CDON):c.*2992T>C rs116579152
NM_016952.4(CDON):c.*3076T>A rs73019370
NM_016952.4(CDON):c.*3141A>G rs191432564
NM_016952.4(CDON):c.*3176C>G rs187258536
NM_016952.4(CDON):c.*3221A>G rs539903009
NM_016952.4(CDON):c.*3409T>G rs141160538
NM_016952.4(CDON):c.*3424T>C rs147791703
NM_016952.4(CDON):c.*3628C>G rs140783947
NM_016952.4(CDON):c.*3830G>A rs116746244
NM_016952.4(CDON):c.*3862G>T rs73019367
NM_016952.4(CDON):c.*3919T>C rs61917811
NM_016952.4(CDON):c.*3972C>G rs142923654
NM_016952.4(CDON):c.*4052C>T rs3039
NM_016952.4(CDON):c.*4080G>A rs79685272
NM_016952.4(CDON):c.*589C>T rs565527208
NM_016952.4(CDON):c.*897T>C rs563620294
NM_016952.4(CDON):c.*911T>C rs369720108
NM_016952.4(CDON):c.*916G>A rs79576369
NM_016952.4(CDON):c.*983A>G rs76724574
NM_016952.4(CDON):c.-131G>A rs79446614
NM_016952.4(CDON):c.-51A>C rs11822173
NM_016952.4(CDON):c.-57C>T rs11829014
NM_016952.4(CDON):c.1051C>G (p.Pro351Ala) rs35665264
NM_016952.4(CDON):c.1296G>A (p.Pro432=) rs11220313
NM_016952.4(CDON):c.1500C>T (p.Cys500=) rs142388716
NM_016952.4(CDON):c.1603G>A (p.Ala535Thr) rs76247998
NM_016952.4(CDON):c.1671G>A (p.Lys557=) rs35884952
NM_016952.4(CDON):c.1818G>T (p.Leu606=) rs147925363
NM_016952.4(CDON):c.1851+14G>A rs113328989
NM_016952.4(CDON):c.197A>G (p.Lys66Arg) rs7122277
NM_016952.4(CDON):c.2051C>G (p.Thr684Ser) rs145983470
NM_016952.4(CDON):c.2057C>T (p.Ala686Val) rs12274923
NM_016952.4(CDON):c.2279G>A (p.Arg760Gln) rs150587299
NM_016952.4(CDON):c.2392A>G (p.Ile798Val) rs142919781
NM_016952.4(CDON):c.2623A>G (p.Ser875Gly) rs115533243
NM_016952.4(CDON):c.330T>C (p.Pro110=) rs35131477
NM_016952.4(CDON):c.350-13T>C rs3740910
NM_016952.4(CDON):c.3526G>A (p.Val1176Ile) rs78304400
NM_016952.4(CDON):c.3559C>T (p.Arg1187Cys) rs150174788
NM_016952.4(CDON):c.3588C>T (p.Asp1196=) rs140895899
NM_016952.4(CDON):c.484G>A (p.Glu162Lys) rs3740909
NM_016952.4(CDON):c.640+12G>A rs4426144
NM_018055.5(NODAL):c.*356G>A rs556853359
NM_018055.5(NODAL):c.*404T>C rs77232076
NM_018055.5(NODAL):c.*479C>T rs80138796
NM_018055.5(NODAL):c.*62A>T rs76889088
NM_018055.5(NODAL):c.*886G>A rs58468830
NM_018055.5(NODAL):c.216C>T (p.Asn72=) rs138195571
NM_018055.5(NODAL):c.357C>T (p.Pro119=) rs77151171
NM_018055.5(NODAL):c.588C>G (p.Leu196=) rs2231959
NM_018055.5(NODAL):c.607G>A (p.Glu203Lys) rs10999334
NM_170695.4(TGIF1):c.*407C>G rs115682894
NM_170695.4(TGIF1):c.1044T>G (p.Thr348=) rs2229336
NM_170695.4(TGIF1):c.1110G>A (p.Pro370=) rs114912664
NM_170695.4(TGIF1):c.807A>G (p.Pro269=) rs2229337
NM_170695.4(TGIF1):c.874C>T (p.Pro292Ser) rs4468717
NM_170695.4(TGIF1):c.875C>T (p.Pro292Leu) rs2229333
NM_170695.4(TGIF1):c.876G>A (p.Pro292=) rs2229334
NM_170695.4(TGIF1):c.963C>T (p.Val321=) rs2229335

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