ClinVar Miner

List of variants in gene FRMPD4 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_001368397.1(FRMPD4):c.3822C>G (p.Thr1274=) rs140304936 0.00108
NM_001368397.1(FRMPD4):c.1218G>A (p.Lys406=) rs140428359 0.00048
NM_001368397.1(FRMPD4):c.2878G>A (p.Ala960Thr) rs138299368 0.00044
NM_001368397.1(FRMPD4):c.2072G>T (p.Gly691Val) rs200183778 0.00022
NM_001368397.1(FRMPD4):c.3713C>T (p.Pro1238Leu) rs145722235 0.00022
NM_001368397.1(FRMPD4):c.1224T>C (p.His408=) rs200736738 0.00021
NM_001368397.1(FRMPD4):c.1399G>A (p.Val467Ile) rs146561056 0.00009
NM_001368397.1(FRMPD4):c.3566G>A (p.Arg1189His) rs751628514 0.00008
NM_001368397.1(FRMPD4):c.2605G>A (p.Val869Ile) rs146534723 0.00004
NM_001368397.1(FRMPD4):c.3938G>A (p.Arg1313Gln) rs759503727 0.00004
NM_001368397.1(FRMPD4):c.2402G>A (p.Arg801His) rs772679523 0.00003
NM_001368397.1(FRMPD4):c.1061A>G (p.Lys354Arg) rs940360052 0.00002
NM_001368397.1(FRMPD4):c.1423G>A (p.Glu475Lys) rs761416670 0.00001
NM_001368397.1(FRMPD4):c.2684T>A (p.Ile895Asn) rs1465723449 0.00001
NM_001368397.1(FRMPD4):c.2917G>C (p.Ala973Pro) rs200249861 0.00001
NM_001368397.1(FRMPD4):c.3459C>T (p.Asp1153=) rs1427946992 0.00001
NM_001368395.3(FRMPD4):c.152+7A>G
NM_001368395.3(FRMPD4):c.98C>T (p.Ser33Phe)
NM_001368397.1(FRMPD4):c.1068C>T (p.Ile356=)
NM_001368397.1(FRMPD4):c.1070+5G>C rs2147140286
NM_001368397.1(FRMPD4):c.125C>T (p.Thr42Met)
NM_001368397.1(FRMPD4):c.1425G>A (p.Glu475=) rs2041902858
NM_001368397.1(FRMPD4):c.1479G>A (p.Thr493=)
NM_001368397.1(FRMPD4):c.1596G>A (p.Ala532=)
NM_001368397.1(FRMPD4):c.1602G>T (p.Gln534His)
NM_001368397.1(FRMPD4):c.2243C>G (p.Ala748Gly)
NM_001368397.1(FRMPD4):c.2591G>A (p.Gly864Glu)
NM_001368397.1(FRMPD4):c.2712G>A (p.Ser904=)
NM_001368397.1(FRMPD4):c.2854G>A (p.Glu952Lys)
NM_001368397.1(FRMPD4):c.3097G>A (p.Asp1033Asn)
NM_001368397.1(FRMPD4):c.3398C>G (p.Ala1133Gly)
NM_001368397.1(FRMPD4):c.3420T>C (p.Asp1140=)
NM_001368397.1(FRMPD4):c.3523G>C (p.Asp1175His) rs371295955
NM_001368397.1(FRMPD4):c.3558T>C (p.Ser1186=)
NM_001368397.1(FRMPD4):c.3703G>A (p.Val1235Met)
NM_001368397.1(FRMPD4):c.3743T>G (p.Ile1248Ser) rs1602376913
NM_001368397.1(FRMPD4):c.380C>T (p.Pro127Leu)
NM_001368397.1(FRMPD4):c.405G>C (p.Arg135=)
NM_001368397.1(FRMPD4):c.4080A>G (p.Pro1360=)
NM_001368397.1(FRMPD4):c.42-3728C>T
NM_001368397.1(FRMPD4):c.4590C>T (p.Cys1530=)
NM_001368397.1(FRMPD4):c.4794C>T (p.Ser1598=)
NM_001368397.1(FRMPD4):c.5124C>T (p.Ile1708=)
NM_001368397.1(FRMPD4):c.561_573+2delinsA rs2147106503
NM_001368397.1(FRMPD4):c.916G>A (p.Glu306Lys) rs2147124878
NM_001368397.1(FRMPD4):c.933+1G>A rs2060108128
NM_001368397.1(FRMPD4):c.933G>A (p.Gln311=) rs2147124922
NM_001368397.1(FRMPD4):c.937T>C (p.Cys313Arg) rs1602345888
NM_001368397.1(FRMPD4):c.985A>G (p.Ile329Val)

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