ClinVar Miner

List of variants reported as likely benign for holoprosencephaly 3 by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 85
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HGVS dbSNP gnomAD frequency
NM_000193.4(SHH):c.885C>T (p.Ser295=) rs549625672 0.00218
NM_000193.4(SHH):c.1181G>A (p.Arg394His) rs551809680 0.00081
NC_000007.14:g.156769366G>A rs116257411 0.00077
NC_000007.14:g.156789347G>A rs114908146 0.00071
NC_000007.14:g.156763986A>G rs138833509 0.00062
NM_000193.4(SHH):c.301-17T>A rs201670599 0.00060
NC_000007.14:g.156769217G>A rs73741532 0.00042
NC_000007.14:g.156779542T>C rs926894818 0.00030
NM_000193.4(SHH):c.213G>A (p.Glu71=) rs200317108 0.00026
NC_000007.14:g.156796048A>G rs969290071 0.00024
NM_000193.4(SHH):c.789C>G (p.Arg263=) rs538266080 0.00023
NM_000193.4(SHH):c.756C>T (p.Phe252=) rs113275997 0.00020
NC_000007.14:g.156789712G>A rs950345080 0.00015
NC_000007.14:g.156763984T>C rs1390665963 0.00014
NM_000193.4(SHH):c.183G>T (p.Arg61Ser) rs776420800 0.00014
NC_000007.14:g.156789436T>C rs1023154046 0.00013
NC_000007.14:g.156789751G>A rs953160721 0.00011
NC_000007.14:g.156769147A>G rs950788705 0.00010
NM_000193.4(SHH):c.60G>A (p.Ser20=) rs374343495 0.00009
NC_000007.14:g.156779470G>A rs982389110 0.00006
NM_000193.4(SHH):c.301-16C>G rs182416757 0.00006
NC_000007.14:g.156796288A>G rs1310694365 0.00005
NM_000193.4(SHH):c.330C>T (p.Ala110=) rs552960040 0.00005
NM_000193.4(SHH):c.1023C>T (p.Ala341=) rs904575296 0.00003
NM_000193.4(SHH):c.25C>T (p.Leu9=) rs748809006 0.00003
NM_000193.4(SHH):c.27G>C (p.Leu9=) rs141162945 0.00003
NM_000193.4(SHH):c.339G>C (p.Val113=) rs757875401 0.00003
NM_000193.4(SHH):c.882T>C (p.Pro294=) rs755846157 0.00003
NM_000193.4(SHH):c.481C>T (p.Leu161=) rs1202580309 0.00002
NM_000193.4(SHH):c.909G>A (p.Ala303=) rs764118631 0.00002
NC_000007.14:g.156789445G>A rs905914635 0.00001
NM_000193.4(SHH):c.1266C>T (p.Asp422=) rs1384501803 0.00001
NM_000193.4(SHH):c.450G>C (p.Thr150=) rs1175883848 0.00001
NM_000193.4(SHH):c.552G>C (p.Ser184=) rs763853851 0.00001
NM_000193.4(SHH):c.562+15G>A rs560605530 0.00001
NM_000193.4(SHH):c.563-10T>C rs774733360 0.00001
NM_000193.4(SHH):c.563-5C>G rs768983299 0.00001
NM_000193.4(SHH):c.597C>T (p.Phe199=) rs999942157 0.00001
NM_000193.4(SHH):c.612G>A (p.Thr204=) rs1490878231 0.00001
NM_000193.4(SHH):c.702C>G (p.Leu234=) rs1324122120 0.00001
NM_000193.4(SHH):c.741C>T (p.Gly247=) rs754898783 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.964G>A (p.Asp322Asn) rs1480063398 0.00001
NC_000007.14:g.156764268G>A rs182107923
NC_000007.14:g.156769008CCT[1] rs937945715
NC_000007.14:g.156769408T>G rs755035014
NC_000007.14:g.156779544G>C rs529780075
NM_000193.4(SHH):c.1083C>G (p.Ala361=) rs1803243344
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=) rs2535892229
NM_000193.4(SHH):c.1176C>T (p.Pro392=) rs1803239333
NM_000193.4(SHH):c.1188C>T (p.Asp396=) rs1346047832
NM_000193.4(SHH):c.1209C>A (p.Gly403=)
NM_000193.4(SHH):c.1227C>T (p.Gly409=)
NM_000193.4(SHH):c.1263C>T (p.Ala421=) rs755577298
NM_000193.4(SHH):c.12G>T (p.Leu4=) rs1239752360
NM_000193.4(SHH):c.1314G>A (p.Leu438=)
NM_000193.4(SHH):c.1365G>A (p.Leu455=) rs756628608
NM_000193.4(SHH):c.150T>C (p.Asn50=) rs2535910504
NM_000193.4(SHH):c.177C>T (p.Ser59=)
NM_000193.4(SHH):c.276C>G (p.Thr92=) rs1008384764
NM_000193.4(SHH):c.282G>A (p.Ala94=)
NM_000193.4(SHH):c.364C>T (p.Leu122=)
NM_000193.4(SHH):c.366G>C (p.Leu122=)
NM_000193.4(SHH):c.393T>C (p.Asp131=)
NM_000193.4(SHH):c.453T>G (p.Ser151=) rs912006512
NM_000193.4(SHH):c.46C>T (p.Leu16=) rs2535910657
NM_000193.4(SHH):c.495G>T (p.Ala165=) rs753150772
NM_000193.4(SHH):c.585G>T (p.Ser195=) rs372353493
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.615G>A (p.Val205=) rs2117128834
NM_000193.4(SHH):c.615G>T (p.Val205=)
NM_000193.4(SHH):c.624G>A (p.Glu208=) rs2535894709
NM_000193.4(SHH):c.630C>A (p.Gly210=) rs9333634
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.87G>A (p.Gly29=)
NM_000193.4(SHH):c.888G>A (p.Gly296=) rs2117127392
NM_000193.4(SHH):c.93G>T (p.Gly31=) rs1803533904
NM_000193.4(SHH):c.957C>T (p.Ala319=) rs753122979

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