ClinVar Miner

List of variants reported as uncertain significance for canthal anomaly by Baylor Genetics

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 31
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HGVS dbSNP
NM_000381.4(MID1):c.476A>G (p.His159Arg)
NM_001163817.2(DHCR7):c.1012G>A (p.Val338Met) rs72954276
NM_001360.2(DHCR7):c.376G>A (p.Val126Ile) rs143587828
NM_001374258.1(BRAF):c.1819T>G (p.Leu607Val)
NM_005633.3(SOS1):c.1271A>G (p.Glu424Gly) rs730881042
NM_005633.3(SOS1):c.829C>A (p.Pro277Thr) rs1057517871
NM_005633.4(SOS1):c.1681G>A (p.Glu561Lys)
NM_005633.4(SOS1):c.23A>T (p.Tyr8Phe)
NM_005633.4(SOS1):c.3092A>G (p.Tyr1031Cys)
NM_005633.4(SOS1):c.3370G>A (p.Val1124Ile)
NM_006767.4(LZTR1):c.1055A>C (p.Tyr352Ser)
NM_006767.4(LZTR1):c.1254G>C (p.Arg418Ser)
NM_006767.4(LZTR1):c.1254G>T (p.Arg418Ser)
NM_006767.4(LZTR1):c.2070-12C>A
NM_006767.4(LZTR1):c.2173C>T (p.Arg725Cys)
NM_006767.4(LZTR1):c.2437A>C (p.Ser813Arg)
NM_006767.4(LZTR1):c.2509G>A (p.Gly837Ser)
NM_006767.4(LZTR1):c.272T>C (p.Met91Thr) rs1555927321
NM_006767.4(LZTR1):c.322G>A (p.Ala108Thr)
NM_006767.4(LZTR1):c.58G>A (p.Ala20Thr)
NM_006767.4(LZTR1):c.594-3C>T
NM_006767.4(LZTR1):c.842C>T (p.Pro281Leu) rs1390048261
NM_006939.4(SOS2):c.3380-3_3380-2del
NM_006939.4(SOS2):c.574A>G (p.Ser192Gly)
NM_007373.4(SHOC2):c.1159A>G (p.Lys387Glu)
NM_007373.4(SHOC2):c.1477C>T (p.Leu493Phe)
NM_015972.4(POLR1D):c.214A>G (p.Thr72Ala)
NM_022464.5(SIL1):c.1012G>A (p.Asp338Asn)
NM_022464.5(SIL1):c.1238G>A (p.Arg413His)
NM_022464.5(SIL1):c.741G>A (p.Ala247=) rs773520401
NM_203290.4(POLR1C):c.88C>T (p.Pro30Ser) rs1057519455

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