ClinVar Miner

List of variants studied for RASopathy by Baylor Miraca Genetics Laboratories,

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 57
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HGVS dbSNP
NM_000267.3(NF1):c.5648A>G (p.Asn1883Ser) rs864622647
NM_000267.3(NF1):c.6277G>T (p.Gly2093Cys)
NM_002755.3(MAP2K1):c.370C>A (p.Pro124Thr)
NM_002755.3(MAP2K1):c.389A>G (p.Tyr130Cys) rs121908595
NM_002834.4(PTPN11):c.1403C>T (p.Thr468Met) rs121918457
NM_002834.4(PTPN11):c.1471C>T (p.Pro491Ser) rs397507539
NM_002834.4(PTPN11):c.1492C>T (p.Arg498Trp) rs397507541
NM_002834.4(PTPN11):c.1508G>C (p.Gly503Ala) rs397507546
NM_002834.4(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.4(PTPN11):c.1528C>G (p.Gln510Glu) rs397507549
NM_002834.4(PTPN11):c.179G>T (p.Gly60Val) rs397507509
NM_002834.4(PTPN11):c.184T>G (p.Tyr62Asp) rs121918460
NM_002834.4(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459
NM_002834.4(PTPN11):c.205G>C (p.Glu69Gln) rs397507511
NM_002834.4(PTPN11):c.214G>T (p.Ala72Ser) rs121918453
NM_002834.4(PTPN11):c.218C>T (p.Thr73Ile) rs121918462
NM_002834.4(PTPN11):c.226G>A (p.Glu76Lys) rs121918464
NM_002834.4(PTPN11):c.228G>T (p.Glu76Asp) rs397507514
NM_002834.4(PTPN11):c.255C>T (p.His85=) rs61736914
NM_002834.4(PTPN11):c.317A>C (p.Asp106Ala) rs397507517
NM_002834.4(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_002834.4(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_002834.4(PTPN11):c.922A>G (p.Asn308Asp) rs28933386
NM_002834.4(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_002880.3(RAF1):c.1755A>G (p.Val585=) rs3730296
NM_002880.3(RAF1):c.1830A>G (p.Gln610=) rs141791080
NM_002880.3(RAF1):c.1941C>T (p.Val647=) rs3730297
NM_002880.3(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_002880.3(RAF1):c.781C>A (p.Pro261Thr) rs121434594
NM_002880.3(RAF1):c.782C>G (p.Pro261Arg) rs397516828
NM_004333.4(BRAF):c.770A>G (p.Gln257Arg) rs180177035
NM_004333.5(BRAF):c.1406G>A (p.Gly469Glu) rs121913355
NM_004333.5(BRAF):c.1593G>C (p.Trp531Cys) rs606231228
NM_004333.5(BRAF):c.1787G>T (p.Gly596Val) rs397507483
NM_004333.5(BRAF):c.1802A>T (p.Lys601Ile) rs397507484
NM_004333.5(BRAF):c.1929A>G (p.Gly643=) rs9648696
NM_004985.4(KRAS):c.194G>T (p.Ser65Ile) rs1555194026
NM_004985.4(KRAS):c.458A>T (p.Asp153Val) rs104894360
NM_005343.2(HRAS):c.34G>T (p.Gly12Cys) rs104894229
NM_005343.2(HRAS):c.35G>A (p.Gly12Asp) rs104894230
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) rs104894228
NM_005343.4(HRAS):c.81T>C (p.His27=) rs12628
NM_005633.3(SOS1):c.1010A>G (p.Tyr337Cys) rs724160007
NM_005633.3(SOS1):c.1656G>T (p.Arg552Ser) rs267607079
NM_005633.3(SOS1):c.195A>C (p.Arg65=) rs7609455
NM_005633.3(SOS1):c.1964C>T (p.Pro655Leu) rs56219475
NM_005633.3(SOS1):c.797C>A (p.Thr266Lys) rs137852812
NM_006912.5(RIT1):c.229G>A (p.Ala77Thr) rs869025191
NM_006912.5(RIT1):c.270G>T (p.Met90Ile) rs483352822
NM_007373.3(SHOC2):c.4A>G (p.Ser2Gly) rs267607048
NM_030662.3(MAP2K2):c.395G>A (p.Gly132Asp) rs387906800
NM_030662.3(MAP2K2):c.405G>C (p.Gly135=) rs10424722
NM_030662.3(MAP2K2):c.453C>T (p.Asp151=) rs17851657
NM_030662.3(MAP2K2):c.660C>A (p.Ile220=) rs10250
NM_033360.3(KRAS):c.13A>G (p.Lys5Glu) rs193929331
NM_033360.3(KRAS):c.483G>A (p.Arg161=) rs4362222
NM_176795.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229

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