ClinVar Miner

List of variants reported as likely benign for dermis disorder by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_058172.6(ANTXR2):c.331C>T (p.Arg111Cys) rs61741646 0.01167
NM_080425.4(GNAS):c.1376C>G (p.Pro459Arg) rs148033592 0.01117
NM_000516.7(GNAS):c.951C>T (p.Arg317=) rs75561530 0.00680
NM_000516.7(GNAS):c.384G>A (p.Val128=) rs3730166 0.00609
NM_000516.7(GNAS):c.366C>T (p.Pro122=) rs35287986 0.00583
NM_080425.4(GNAS):c.1798C>G (p.Arg600Gly) rs74897360 0.00538
NM_080425.4(GNAS):c.1221C>G (p.Thr407=) rs200430001 0.00433
NM_080425.4(GNAS):c.484A>G (p.Met162Val) rs138731520 0.00192
NM_002223.4(ITPR2):c.6551C>G (p.Thr2184Ser) rs184496919 0.00083
NM_016592.5(GNAS):c.537G>A (p.Pro179=) rs181594534 0.00072
NM_080425.4(GNAS):c.1395A>C (p.Pro465=) rs56213454 0.00027
NM_000516.7(GNAS):c.312+17T>C rs78999525 0.00022
NM_000516.7(GNAS):c.530+11G>A rs74474807 0.00017
NM_001142730.3(KCTD1):c.2181C>T (p.Pro727=) rs180735402 0.00016
NM_000222.3(KIT):c.2502G>A (p.Lys834=) rs146992614 0.00014
NM_000516.7(GNAS):c.1038+17_1038+20del rs773644530 0.00013
NM_000516.7(GNAS):c.213-11C>T rs369370389 0.00013
NM_080425.4(GNAS):c.913T>C (p.Ser305Pro) rs376517306 0.00008
NM_000516.7(GNAS):c.357G>A (p.Leu119=) rs368741499 0.00006
NM_000516.7(GNAS):c.1039-4G>A rs575570315 0.00005
NM_000516.7(GNAS):c.576G>T (p.Pro192=) rs558915293 0.00005
NM_080425.4(GNAS):c.1462G>A (p.Ala488Thr) rs552813440 0.00005
NM_000222.3(KIT):c.840G>C (p.Ala280=) rs142772432 0.00004
NM_000516.7(GNAS):c.684C>T (p.Arg228=) rs147984566 0.00004
NM_000516.7(GNAS):c.936T>C (p.Phe312=) rs764458531 0.00004
NM_080425.4(GNAS):c.958G>A (p.Asp320Asn) rs201342585 0.00004
NM_000516.7(GNAS):c.1131C>T (p.Asn377=) rs140075370 0.00003
NM_000516.7(GNAS):c.660-19C>T rs370723643 0.00003
NM_000222.3(KIT):c.531C>T (p.Arg177=) rs756722358 0.00001
NM_000516.7(GNAS):c.111C>T (p.Tyr37=) rs749235261 0.00001
NM_000516.7(GNAS):c.136C>T (p.Leu46=) rs775009418 0.00001
NM_000516.7(GNAS):c.258-7A>C rs1183884518 0.00001
NM_000516.7(GNAS):c.660-15C>A rs755766644 0.00001
NM_000516.7(GNAS):c.738C>T (p.Phe246=) rs772094317 0.00001
NM_000516.7(GNAS):c.432C>T (p.Pro144=) rs11554266
NM_000516.7(GNAS):c.75G>A (p.Lys25=) rs1326256762
NM_080425.4(GNAS):c.1276G>C (p.Ala426Pro) rs767104257
NM_080425.4(GNAS):c.1428C>G (p.Ala476=) rs559714658
NM_080425.4(GNAS):c.628G>C (p.Ala210Pro) rs61749696

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