ClinVar Miner

List of variants reported as uncertain significance for aortic valve disease 1

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 39
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HGVS dbSNP
GRCh37/hg19 13q22.1(chr13:74152544-74283131)
GRCh37/hg19 16p13.11-12.3(chr16:16633361-16688008)
GRCh37/hg19 19p12(chr19:20834979-20987550)
GRCh37/hg19 19p13.2(chr19:8213468-8227432)
GRCh37/hg19 1q42.13(chr1:228297613-228703236)
GRCh37/hg19 22q11.21(chr22:18844632-19008108)
GRCh37/hg19 7p14.3-14.2(chr7:34920075-35212065)
NM_001077653.2(TBX20):c.117C>G (p.Ile39Met) rs1562569196
NM_001077653.2(TBX20):c.374C>A (p.Ser125Ter) rs766692577
NM_001077653.2(TBX20):c.527A>C (p.Asp176Ala) rs201782046
NM_001077653.2(TBX20):c.533C>T (p.Pro178Leu) rs760169368
NM_001278074.1(COL5A1):c.514G>T (p.Val172Phe) rs150147262
NM_002474.3(MYH11):c.3560C>T (p.Thr1187Met) rs552818350
NM_014462.3(LSM1):c.231+4A>C rs775468919
NM_017617.5(NOTCH1):c.1295C>T (p.Thr432Met) rs200562991
NM_017617.5(NOTCH1):c.1699A>G (p.Ile567Val) rs369067940
NM_017617.5(NOTCH1):c.2021T>C (p.Met674Thr) rs587782970
NM_017617.5(NOTCH1):c.2218G>A (p.Asp740Asn) rs200816814
NM_017617.5(NOTCH1):c.3104C>T (p.Thr1035Ile) rs886039138
NM_017617.5(NOTCH1):c.3510+3G>A rs372739350
NM_017617.5(NOTCH1):c.3908G>A (p.Arg1303His) rs768775024
NM_017617.5(NOTCH1):c.4238G>A (p.Arg1413His) rs371068504
NM_017617.5(NOTCH1):c.4313G>A (p.Arg1438His) rs61751541
NM_017617.5(NOTCH1):c.4472C>T (p.Thr1491Met) rs369915496
NM_017617.5(NOTCH1):c.4795G>A (p.Val1599Met)
NM_017617.5(NOTCH1):c.4985G>A (p.Arg1662Gln) rs774808496
NM_017617.5(NOTCH1):c.4988G>A (p.Arg1663Gln) rs749490844
NM_017617.5(NOTCH1):c.5014C>T (p.Arg1672Cys) rs745901158
NM_017617.5(NOTCH1):c.5189C>T (p.Pro1730Leu) rs375897519
NM_017617.5(NOTCH1):c.5215G>A (p.Val1739Met) rs377294245
NM_017617.5(NOTCH1):c.6521A>G (p.Lys2174Arg) rs761602495
NM_017617.5(NOTCH1):c.7313C>T (p.Pro2438Leu) rs199777870
NM_017617.5(NOTCH1):c.7363A>G (p.Thr2455Ala) rs536167222
NM_017617.5(NOTCH1):c.7498C>G (p.His2500Asp) rs763902589
NM_017617.5(NOTCH1):c.775G>A (p.Asp259Asn) rs763187824
NM_017617.5(NOTCH1):c.839A>G (p.Asn280Ser) rs367825691
NM_019055.6(ROBO4):c.1529A>T (p.Asp510Val) rs1565325937
NM_030777.4(SLC2A10):c.929C>T (p.Ser310Phe) rs763521707
NM_080473.5(GATA5):c.1159C>T (p.Arg387Cys) rs145205240

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