ClinVar Miner

List of variants in gene SHH reported as likely benign for congenital nervous system disorder

Included ClinVar conditions (854):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_000193.4(SHH):c.300+17G>A rs116412905 0.00504
NM_000193.4(SHH):c.885C>T (p.Ser295=) rs549625672 0.00234
NM_000193.4(SHH):c.869G>A (p.Gly290Asp) rs104894047 0.00191
NM_000193.4(SHH):c.1181G>A (p.Arg394His) rs551809680 0.00085
NM_000193.4(SHH):c.301-17T>A rs201670599 0.00060
NM_000193.4(SHH):c.213G>A (p.Glu71=) rs200317108 0.00026
NM_000193.4(SHH):c.756C>T (p.Phe252=) rs113275997 0.00024
NM_000193.4(SHH):c.183G>T (p.Arg61Ser) rs776420800 0.00015
NM_000193.4(SHH):c.60G>A (p.Ser20=) rs374343495 0.00009
NM_000193.4(SHH):c.330C>T (p.Ala110=) rs552960040 0.00005
NM_000193.4(SHH):c.25C>T (p.Leu9=) rs748809006 0.00003
NM_000193.4(SHH):c.481C>T (p.Leu161=) rs1202580309 0.00002
NM_000193.4(SHH):c.597C>T (p.Phe199=) rs999942157 0.00002
NM_000193.4(SHH):c.552G>C (p.Ser184=) rs763853851 0.00001
NM_000193.4(SHH):c.563-5C>G rs768983299 0.00001
NM_000193.4(SHH):c.702C>G (p.Leu234=) rs1324122120 0.00001
NM_000193.4(SHH):c.750G>A (p.Lys250=) rs779670631 0.00001
NM_000193.4(SHH):c.873G>C (p.Ser291=) rs1404435726 0.00001
NM_000193.4(SHH):c.909G>A (p.Ala303=) rs764118631 0.00001
NM_000193.4(SHH):c.1023C>T (p.Ala341=)
NM_000193.4(SHH):c.1083C>G (p.Ala361=)
NM_000193.4(SHH):c.1095G>T (p.Ala365=) rs1304554866
NM_000193.4(SHH):c.1134G>A (p.Ala378=) rs1183016796
NM_000193.4(SHH):c.1155G>A (p.Ala385=)
NM_000193.4(SHH):c.1176C>T (p.Pro392=) rs1803239333
NM_000193.4(SHH):c.1188C>T (p.Asp396=)
NM_000193.4(SHH):c.1263C>T (p.Ala421=)
NM_000193.4(SHH):c.1266C>T (p.Asp422=)
NM_000193.4(SHH):c.12G>T (p.Leu4=) rs1239752360
NM_000193.4(SHH):c.1365G>A (p.Leu455=)
NM_000193.4(SHH):c.150T>C (p.Asn50=)
NM_000193.4(SHH):c.276C>G (p.Thr92=)
NM_000193.4(SHH):c.301-16C>G
NM_000193.4(SHH):c.339G>C (p.Val113=)
NM_000193.4(SHH):c.450G>C (p.Thr150=)
NM_000193.4(SHH):c.453T>G (p.Ser151=)
NM_000193.4(SHH):c.46C>T (p.Leu16=)
NM_000193.4(SHH):c.495G>T (p.Ala165=)
NM_000193.4(SHH):c.562+15G>A
NM_000193.4(SHH):c.563-10T>C
NM_000193.4(SHH):c.585G>T (p.Ser195=)
NM_000193.4(SHH):c.600G>A (p.Pro200=) rs1161764266
NM_000193.4(SHH):c.60G>C (p.Ser20=) rs374343495
NM_000193.4(SHH):c.612G>A (p.Thr204=)
NM_000193.4(SHH):c.615G>A (p.Val205=) rs2117128834
NM_000193.4(SHH):c.624G>A (p.Glu208=)
NM_000193.4(SHH):c.630C>A (p.Gly210=)
NM_000193.4(SHH):c.633C>A (p.Gly211=) rs2117128742
NM_000193.4(SHH):c.834C>T (p.Asn278=) rs2117127848
NM_000193.4(SHH):c.861G>T (p.Ala287=) rs1229649312
NM_000193.4(SHH):c.879G>A (p.Pro293=) rs911838783
NM_000193.4(SHH):c.882T>C (p.Pro294=)
NM_000193.4(SHH):c.888G>A (p.Gly296=) rs2117127392
NM_000193.4(SHH):c.93G>T (p.Gly31=)
NM_000193.4(SHH):c.957C>T (p.Ala319=)
NM_000193.4(SHH):c.964G>A (p.Asp322Asn) rs1480063398

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