ClinVar Miner

List of variants studied for achondrogenesis type IA

Included ClinVar conditions (1):
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Total variants: 38
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HGVS dbSNP
NC_000014.9:g.91999298_91999301TCTT[1]
NM_004239.4(TRIP11):c.1159G>A (p.Val387Met) rs376669587
NM_004239.4(TRIP11):c.1265T>C (p.Met422Thr)
NM_004239.4(TRIP11):c.1271T>G (p.Ile424Ser)
NM_004239.4(TRIP11):c.1280T>A (p.Leu427Ter)
NM_004239.4(TRIP11):c.1547A>G (p.Asp516Gly) rs1018806781
NM_004239.4(TRIP11):c.1934_1937AAGA[1] (p.Arg647fs) rs773312108
NM_004239.4(TRIP11):c.202-2A>G rs863223281
NM_004239.4(TRIP11):c.2102A>G (p.Asn701Ser) rs139539448
NM_004239.4(TRIP11):c.2128_2129del (p.Ile710fs) rs1566860640
NM_004239.4(TRIP11):c.2138C>A (p.Thr713Asn)
NM_004239.4(TRIP11):c.2237T>C (p.Leu746Pro) rs745959376
NM_004239.4(TRIP11):c.223T>C (p.Cys75Arg)
NM_004239.4(TRIP11):c.2300_2303TCAA[1] (p.Asn768fs) rs1294029121
NM_004239.4(TRIP11):c.2377A>G (p.Lys793Glu)
NM_004239.4(TRIP11):c.2498_2501del (p.Lys833fs) rs1085307101
NM_004239.4(TRIP11):c.2557C>T (p.Arg853Ter)
NM_004239.4(TRIP11):c.2603A>G (p.Glu868Gly)
NM_004239.4(TRIP11):c.3352_3353del (p.Glu1118fs) rs1566859264
NM_004239.4(TRIP11):c.3370G>A (p.Asp1124Asn)
NM_004239.4(TRIP11):c.382G>T (p.Ala128Ser) rs141553918
NM_004239.4(TRIP11):c.4050A>C (p.Glu1350Asp) rs548160101
NM_004239.4(TRIP11):c.405T>C (p.Ala135=) rs77981249
NM_004239.4(TRIP11):c.4130T>C (p.Ile1377Thr)
NM_004239.4(TRIP11):c.4812T>C (p.Asp1604=) rs17127837
NM_004239.4(TRIP11):c.5149A>T (p.Ile1717Leu)
NM_004239.4(TRIP11):c.5169G>A (p.Leu1723=) rs2038276
NM_004239.4(TRIP11):c.5470G>A (p.Asp1824Asn) rs550137986
NM_004239.4(TRIP11):c.5479G>T (p.Gly1827Cys)
NM_004239.4(TRIP11):c.5719+2T>C rs199736345
NM_004239.4(TRIP11):c.5781G>A (p.Ser1927=) rs3742719
NM_004239.4(TRIP11):c.586C>T (p.Gln196Ter) rs149079426
NM_004239.4(TRIP11):c.615_616CT[1] (p.Asn205_Ser206insTer) rs1566867763
NM_004239.4(TRIP11):c.61G>A (p.Gly21Ser)
NM_004239.4(TRIP11):c.754C>A (p.Arg252=) rs186197454
NM_004239.4(TRIP11):c.790C>T (p.Arg264Ter) rs267607138
NM_004239.4(TRIP11):c.986_987GA[1] (p.Asp330fs)
NP_004230.2(TRIP11):p.Trp1224Ter

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