ClinVar Miner

List of variants studied for ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_145861.4(EDARADD):c.27G>A (p.Met9Ile) rs966365 0.75593
NM_145861.4(EDARADD):c.369C>T (p.Asp123=) rs604070 0.18581
NM_145861.4(EDARADD):c.60G>A (p.Glu20=) rs60808129 0.02304
NM_145861.4(EDARADD):c.308C>T (p.Ser103Phe) rs114632254 0.02153
NM_145861.4(EDARADD):c.121-19C>T rs12064562 0.01338
NM_145861.4(EDARADD):c.393G>A (p.Pro131=) rs139996586 0.00254
NM_145861.4(EDARADD):c.120+7G>A rs149429886 0.00125
NM_145861.4(EDARADD):c.161-13T>C rs184596437 0.00110
NM_145861.4(EDARADD):c.509G>A (p.Arg170Gln) rs757261515 0.00006
NM_145861.4(EDARADD):c.392C>T (p.Pro131Leu) rs1005957166 0.00002
NM_145861.4(EDARADD):c.199A>T (p.Asn67Tyr) rs751704449 0.00001
NM_145861.4(EDARADD):c.417G>A (p.Trp139Ter) rs954823206 0.00001
NM_145861.4(EDARADD):c.568G>A (p.Asp190Asn) rs748587639 0.00001
NC_000001.10:g.(?_236631511)_(236631596_?)dup
NC_000001.10:g.(?_236631511)_(236645949_?)dup
NC_000001.11:g.236468231_236468234del
NM_145861.4(EDARADD):c.101G>A (p.Ser34Asn)
NM_145861.4(EDARADD):c.120+20C>T
NM_145861.4(EDARADD):c.147G>A (p.Thr49=)
NM_145861.4(EDARADD):c.154C>T (p.Pro52Ser)
NM_145861.4(EDARADD):c.161-17_161-15del
NM_145861.4(EDARADD):c.161-6del rs555177993
NM_145861.4(EDARADD):c.161-6dup rs555177993
NM_145861.4(EDARADD):c.220G>A (p.Gly74Arg)
NM_145861.4(EDARADD):c.22C>G (p.Gln8Glu)
NM_145861.4(EDARADD):c.358_359delinsAT (p.Asp120Ile) rs2103042601
NM_145861.4(EDARADD):c.367G>A (p.Asp123Asn) rs879255629
NM_145861.4(EDARADD):c.404C>T (p.Thr135Met)
NM_145861.4(EDARADD):c.446C>T (p.Ser149Phe) rs2103042663
NM_145861.4(EDARADD):c.484A>G (p.Ser162Gly)
NM_145861.4(EDARADD):c.53A>G (p.His18Arg)
NM_145861.4(EDARADD):c.543G>T (p.Glu181Asp)
NM_145861.4(EDARADD):c.548_549del (p.Leu182_Cys183insTer)
NM_145861.4(EDARADD):c.570C>T (p.Asp190=)
NM_145861.4(EDARADD):c.62-18T>C

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