ClinVar Miner

List of variants reported as pathogenic for Holoprosencephaly 3

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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_000193.4(SHH):c.869G>A (p.Gly290Asp) rs104894047 0.00191
NM_000193.4(SHH):c.676G>A (p.Ala226Thr) rs104894043 0.00006
NM_000193.4(SHH):c.708C>A (p.Ser236Arg) rs587778806 0.00003
NM_000193.4(SHH):c.1147G>A (p.Ala383Thr) rs137853341 0.00001
NM_000193.4(SHH):c.664G>A (p.Asp222Asn) rs587778805 0.00001
GRCh37/hg19 7q36.2-36.3(chr7:154831466-156356088)
GRCh38/hg38 7q36.2-36.3(chr7:154446117-159206757)x1
NC_000007.13:g.(?_152617597)_(158500659_?)del
NC_000007.13:g.(?_155596114)_(155657138_?)del
NM_000193.4(SHH):c.100_101del (p.Arg34fs) rs1584806077
NM_000193.4(SHH):c.1040C>T (p.Pro347Leu) rs886042458
NM_000193.4(SHH):c.1132_1140del (p.Ala378_Phe380del) rs397515376
NM_000193.4(SHH):c.1172del (p.Ala391fs) rs1803239521
NM_000193.4(SHH):c.1212_1226del (p.Asp405_Gly409del) rs587778786
NM_000193.4(SHH):c.1270C>G (p.Pro424Ala) rs104894048
NM_000193.4(SHH):c.1284del (p.Thr429fs) rs1057518660
NM_000193.4(SHH):c.1307C>A (p.Ser436Ter) rs1554493607
NM_000193.4(SHH):c.214C>T (p.Arg72Ter) rs779093031
NM_000193.4(SHH):c.263A>T (p.Asp88Val) rs104894050
NM_000193.4(SHH):c.298C>T (p.Gln100Ter) rs104894044
NM_000193.4(SHH):c.300G>C (p.Gln100His) rs587778792
NM_000193.4(SHH):c.313A>T (p.Lys105Ter) rs104894045
NM_000193.4(SHH):c.345C>A (p.Asn115Lys) rs267607047
NM_000193.4(SHH):c.349T>C (p.Trp117Arg) rs104894040
NM_000193.4(SHH):c.349T>G (p.Trp117Gly) rs104894040
NM_000193.4(SHH):c.383G>A (p.Trp128Ter) rs104894053
NM_000193.4(SHH):c.38_45del (p.Val13fs) rs587778789
NM_000193.4(SHH):c.415_416del (p.Leu139fs) rs1584800607
NM_000193.4(SHH):c.419_423dup (p.Glu142fs) rs1584800601
NM_000193.4(SHH):c.474C>G (p.Tyr158Ter) rs146990376
NM_000193.4(SHH):c.562G>C (p.Glu188Gln) rs587778799
NM_000193.4(SHH):c.625C>T (p.Gln209Ter) rs587778803
NM_000193.4(SHH):c.671T>A (p.Val224Glu) rs104894042
NM_000193.4(SHH):c.6_9dup (p.Leu4fs) rs587778788
NM_000193.4(SHH):c.705del (p.Leu234_Tyr235insTer)
NM_000193.4(SHH):c.766G>T (p.Glu256Ter) rs104894051
NM_000193.4(SHH):c.788_808del (p.Arg263_Ala269del) rs397515375
NM_000193.4(SHH):c.850G>T (p.Glu284Ter) rs104894046
NM_000193.4(SHH):c.851_873del (p.Glu284fs) rs1554493810
NM_000193.4(SHH):c.91G>A (p.Gly31Arg) rs28936675
c.1308C>T

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