ClinVar Miner

List of variants studied for autosomal recessive disease by Hereditary Research Laboratory, Bethlehem University

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_001039141.3(TRIOBP):c.1039C>T (p.Arg347Ter) rs118204026 0.00010
NM_006019.4(TCIRG1):c.1978C>T (p.Arg660Cys) rs528045019 0.00009
NM_013296.5(GPSM2):c.379C>T (p.Arg127Ter) rs267606854 0.00006
NM_138691.3(TMC1):c.100C>T (p.Arg34Ter) rs121908073 0.00006
NM_016239.4(MYO15A):c.1223C>T (p.Ala408Val) rs191710555 0.00003
NM_000260.4(MYO7A):c.6487G>A (p.Gly2163Ser) rs747656448 0.00002
NM_016239.4(MYO15A):c.9572G>A (p.Arg3191His) rs373520843 0.00002
NM_022124.6(CDH23):c.1037C>T (p.Pro346Leu) rs778251205 0.00002
NM_194248.3(OTOF):c.4747C>T (p.Arg1583Cys) rs781688103 0.00002
NM_000260.4(MYO7A):c.6211C>T (p.Gln2071Ter) rs1060499802 0.00001
NM_000441.2(SLC26A4):c.2048T>C (p.Phe683Ser) rs1060499808 0.00001
NM_001287.6(CLCN7):c.1561G>A (p.Gly521Arg) rs368190250 0.00001
NM_002473.6(MYH9):c.5137A>G (p.Ser1713Gly) rs764139009 0.00001
NM_013322.3(SNX10):c.152G>A (p.Arg51Gln) rs398123011 0.00001
NC_000018.10:g.60033942_60033993del rs2144716942
NM_000260.4(MYO7A):c.1117C>T (p.Arg373Cys) rs868979094
NM_000260.4(MYO7A):c.2307del (p.Asn769fs) rs1060499800
NM_000260.4(MYO7A):c.4153-2A>G rs1060499803
NM_000260.4(MYO7A):c.6196C>T (p.Gln2066Ter) rs1060499801
NM_000271.5(NPC1):c.2531dup (p.Val845fs) rs2145378067
NM_000271.5(NPC1):c.2974G>T (p.Gly992Trp) rs80358254
NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val) rs146281367
NM_000441.2(SLC26A4):c.1149+1del rs1060499807
NM_000441.2(SLC26A4):c.1198del (p.Cys400fs) rs397516413
NM_000441.2(SLC26A4):c.1341+1del rs397516417
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) rs111033256
NM_001039141.3(TRIOBP):c.1447C>T (p.Gln483Ter) rs1060499809
NM_001039141.3(TRIOBP):c.3055G>A (p.Gly1019Arg) rs549095193
NM_001256317.3(TMPRSS3):c.582T>A (p.Cys194Ter) rs1060499811
NM_001379180.1(ESRRB):c.608G>A (p.Arg203His) rs1060499794
NM_001379180.1(ESRRB):c.850G>A (p.Gly284Ser) rs375916159
NM_001384140.1(PCDH15):c.4671+1217C>T rs1056396947
NM_001384474.1(LOXHD1):c.4843G>A (p.Gly1615Arg) rs768835732
NM_005422.4(TECTA):c.4857C>A (p.Cys1619Ter) rs764153521
NM_006019.4(TCIRG1):c.1384_1386del (p.Asn462del) rs771271907
NM_013296.5(GPSM2):c.977G>A (p.Trp326Ter) rs1060499797
NM_016239.4(MYO15A):c.4240G>A (p.Glu1414Lys) rs1060499798
NM_016239.4(MYO15A):c.7207G>T (p.Asp2403Tyr) rs878853227
NM_022124.6(CDH23):c.1036C>T (p.Pro346Ser) rs1060499791
NM_022124.6(CDH23):c.1675C>T (p.Pro559Ser) rs1060499792
NM_022124.6(CDH23):c.3181G>A (p.Glu1061Lys) rs1060499793
NM_022124.6(CDH23):c.5749G>A (p.Glu1917Lys) rs1060499789
NM_022124.6(CDH23):c.683A>T (p.Asp228Val) rs1060499788
NM_022124.6(CDH23):c.8204T>C (p.Leu2735Pro) rs1060499790
NM_032119.4(ADGRV1):c.10426G>A (p.Gly3476Arg) rs1060499795
NM_032119.4(ADGRV1):c.2898G>A (p.Glu966=) rs1060499796
NM_138691.3(TMC1):c.1532C>T (p.Pro511Leu) rs727503483
NM_144672.4(OTOA):c.1025A>T (p.Asp342Val) rs1060499804
NM_173477.5(USH1G):c.832_851del (p.Ser278fs) rs397515345
NM_182548.4(LHFPL5):c.1A>G (p.Met1Val) rs1060499810
NM_194248.3(OTOF):c.4030C>T (p.Arg1344Ter) rs1060499805

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