ClinVar Miner

List of variants studied for multiple congenital anomalies/dysmorphic syndrome-intellectual disability by Clinical Genomics Laboratory, Stanford Medicine

Included ClinVar conditions (406):
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ClinVar version:
Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_006015.6(ARID1A):c.163G>A (p.Gly55Arg) rs1482791997 0.00001
NM_001080517.3(SETD5):c.1441-2A>G rs2041850053
NM_001083962.2(TCF4):c.637_639delinsCTTCATGCAACCAGCACTT (p.Ser213fs) rs2062114611
NM_001101.5(ACTB):c.1043C>T (p.Ser348Leu) rs886041309
NM_001163435.3(TBCK):c.2143C>T (p.Gln715Ter) rs1750958862
NM_001197104.2(KMT2A):c.3463T>C (p.Cys1155Arg)
NM_001197104.2(KMT2A):c.7144C>T (p.Arg2382Ter) rs387907275
NM_001197104.2(KMT2A):c.7354C>G (p.Pro2452Ala) rs2134391388
NM_001347721.2(DYRK1A):c.980_981insCCCA (p.Met327fs) rs2053150009
NM_001374828.1(ARID1B):c.1767del (p.Gly590fs) rs1289149988
NM_001374828.1(ARID1B):c.5239C>T (p.Arg1747Ter) rs1554236040
NM_001904.4(CTNNB1):c.1683+1del
NM_002397.5(MEF2C):c.532C>T (p.Gln178Ter) rs1772953161
NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn) rs727504317
NM_003072.5(SMARCA4):c.2716C>T (p.Arg906Cys) rs898406635
NM_003482.4(KMT2D):c.10784A>G (p.Tyr3595Cys) rs1555189207
NM_003482.4(KMT2D):c.12844C>T (p.Arg4282Ter) rs1057517992
NM_003482.4(KMT2D):c.6782dup (p.Gly2262fs)
NM_003482.4(KMT2D):c.8488C>T (p.Arg2830Ter) rs727503983
NM_004958.4(MTOR):c.7292T>C (p.Leu2431Pro) rs1057524044
NM_005629.4(SLC6A8):c.1232T>C (p.Leu411Ser) rs2091472802
NM_005629.4(SLC6A8):c.1249A>C (p.Ser417Arg) rs2091472899
NM_006245.4(PPP2R5D):c.598G>A (p.Glu200Lys) rs863225079
NM_006306.4(SMC1A):c.1235G>A (p.Arg412Gln) rs781890390
NM_006565.4(CTCF):c.784G>A (p.Val262Ile)
NM_006766.5(KAT6A):c.4664G>A (p.Ser1555Asn) rs1821677301
NM_007118.4(TRIO):c.4394A>G (p.Asn1465Ser) rs1747669042
NM_015100.4(POGZ):c.3360dup (p.Met1121fs) rs1653455584
NM_015335.5(MED13L):c.3459del (p.Asn1154fs)
NM_015443.4(KANSL1):c.2591del (p.Asn864fs) rs2077088526
NM_016628.5(WAC):c.381+4_381+7del rs1564400647
NM_017934.7(PHIP):c.2T>C (p.Met1Thr) rs1774283406
NM_058179.4(PSAT1):c.420G>T (p.Trp140Cys) rs1008314756
NM_058179.4(PSAT1):c.955dup (p.Arg319fs) rs916968001
NM_078480.3(PUF60):c.612_630del (p.Asn207fs) rs1816565452
NM_080632.3(UPF3B):c.674_677del (p.Arg225fs) rs794727881

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